Varaico: Literature-Extracted Genetic Variants

FAT4

534 papers

RefSeq Summary

The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cau...

Pfam Domains

Cadherin_FAT4_Naa 43–127UCSCFAT4-like, N-terminal cadherin-like domain

Cadherinaa 140–241UCSCCadherin domain

Cadherinaa 255–344UCSCCadherin domain

Cadherinaa 363–466UCSCCadherin domain

Cadherinaa 480–573UCSCCadherin domain

Cadherinaa 588–680UCSCCadherin domain

Gene Aliases

HGNC Name

FAT atypical cadherin 4

HGNC Alias Symbols

CDHF14; FAT-J; CDHR11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001291303.3

p.R356C

c.1066C>T

Surrounding Variants

1 paper

NM_001291303.3

p.K354T

c.1061A>C

1 paper

NM_001291303.3

p.V352A

c.1055T>C

1 paper

NM_001291303.3

p.A360T

c.1078G>A

1 paper

NM_001291303.3

p.A360P

c.1078G>C

1 paper

NM_001291303.3

p.A360ins1

c.1079_1080insACT

1 paper

NM_001291303.3

p.P351L

c.1052C>T

1 paper

NM_001291303.3

p.R363C

c.1087C>T

1 paper

NM_001291303.3

p.Y364Y

c.1092C>T

1 paper

NM_001291303.3

p.D368G

c.1103A>G

1 paper

NM_001291303.3

p.N370_V373del4

c.1108_1118del12

1 paper

NM_001291303.3

p.A371S

c.1111G>T

1 paper

NM_001291303.3

p.Q372E

c.1114C>G